The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

BACKGROUND: Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of GA1 patients is possible by newborn screening (NB...

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Pubblicato in:JIMD Rep
Autori principali: Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2021
Soggetti:
Research Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260482/
https://ncbi.nlm.nih.gov/pubmed/34258142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12217
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